DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs79105258	CUX2	12	111280427	intron variant	C/A;T	snv			24
rs198851	H4C3	6	26104404	downstream gene variant	T/A;C;G	snv			15
rs13331259	FAM234A	16	249924	intron variant	A/G	snv		3.0E-02	14
rs112505971	ANKRD26	10	27068541	intron variant	A/C;G	snv			13
rs2853961		6	31264212	downstream gene variant	G/A	snv		0.38	13
rs3123543	ATF3	1	212617344	intron variant	T/A;C	snv			13
rs3840870	COL1A1	17	50184820	3 prime UTR variant	-/CTTG	delins			13
rs4837892	TTLL11	9	121826025	intron variant	G/T	snv		0.36	13
rs7296503	PDZRN4	12	41306962	intron variant	C/T	snv		0.57	13
rs76792961	FAM234A	16	243594	intron variant	C/T	snv		7.3E-03	13
rs7776054	HBS1L	6	135097778	intron variant	A/G	snv		0.24	13
rs9917425	OTOR	20	16755400	intron variant	G/T	snv		0.16	13
rs35188965	SLC12A7	5	1104823	intron variant	C/G;T	snv			12
rs3811444	TRIM58	1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs17758695	BCL2	18	63253621	intron variant	C/T	snv		2.1E-02	10
rs218265		4	54542832	intergenic variant	T/C	snv		0.21	10
rs2277339	HSD17B6 ; PRIM1	12	56752285	missense variant	T/G	snv	0.12	0.14	10
rs35979828	NFE2	12	54292096	intron variant	C/T	snv		5.0E-02	9
rs17342717	SLC17A1	6	25821542	intron variant	C/T	snv		6.1E-02	8
rs17476364	HK1	10	69334748	intron variant	T/C	snv		6.4E-02	8
rs2075672	TFR2 ; ACTL6B	7	100642673	intron variant	A/G	snv		0.65	8
rs9487023	CCDC162P	6	109268801	intron variant	A/G	snv		0.40	8
rs10758656	RCL1	9	4852599	intron variant	A/G	snv		0.19	7
rs129128	H2BC4 ; H2AC6	6	26125114	intron variant	C/T	snv		0.91	7
rs1505307	THRB	3	24301839	intron variant	T/C	snv		0.60	7